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Cohort study uncovers clinical features of SCA27B in late-onset ataxia, highlighting FGF14 repeat expansions as a major diagnostic target.
Spinocerebellar ataxia 27B (SCA27B) is a recently discovered genetic cause of idiopathic late-onset cerebellar ataxia (ILOCA) due to guanine-adenine-adenine (GAA) repeat expansions (greater than 250) in FGF14. We aimed to identify and characterize a New Zealand cohort of patients with SCA27B.
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Anderson et al. (2026) studied this question.
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